Evaluation of genetic analysis results in infertile male patients with nonobstructive azoospermia

The aim of this study is to evaluate the genetic analysis results of patients who administered to our clinic with infertility and whom spermiogram tests revelaed nonobstructive azoospermia (NOA) and to analyze the results of microdissection testicular sperm extraction (micro-TESE) operations performed on patients with a detected genetic abnormality. Among 944 patients underwent a micro-TESE operation because of NOA between September 2003–January 2015, 540 patients who were tested for caryotype analysis and chromosome Y microdeletion were included in our study. The sperm extraction rates of with Klinefelter syndrome (KS), deletion of chromosome Y or other genetic abnormalities were compared with NOA patients with normal genetic analysis results. In addition, the association between the age, duration of infertility, testicular size, serum FSH and testosteron levels of patients and sperm extraction rates of micro-TESE operations was also evaluated. The overall sperm retrieval rate of NOA patients who underwent micro-TESE was 47.5%. While sperm retrieval rate was 40% for genetically tested patients (n:540), it was 56% for genetically untested patients (n:454). Among 104 patients with KS, sperm was successfully identified after micro-TESE in 22 (%21.2). This ratio was 45% for patients with normal caryotype analysis. The difference between sperm retrival rates were statistically significant (p<0,001). Fourteen patients were diagnosed with the microdeletion of chromosome Y. Among these patients 12 had AZFc and 2 had AZFb deletions. Sperm was successfully identified in 4 of the patients (28.6%), with chromosome Y microdeletion, All of these patients had AZFc deletion. Sperm retrieval rate was 39% for patients without the deletion. Difference between the sperm retrieval rates of patients with and without deletion was not found to be statistically significant (p=0.580). It was detected that; while the duration of infertility does not have an affect on the sperm retrieval rates after micro-TESE (p=0.712), age, testicular volumes, serum FSH and testosteron levels have a significant affect on the sperm retrieval rates (p<0.005). To our knowledge this study is the most comprehensive study in the literature evaluating the genetic analysis results. We think our study will be a good source in the vii determination of genetic abnormality rates of NOA patients, and the micro-TESE results of patients with genetic abnormalities in our country. In addition, in this study the sperm retrieval rates of patients who have chromosome Y microdeletion or KS, were found to be lower when compared with other studies in the litetature. This difference could be derived from the genetically tested population's structure, variance in the gene areas used for scanning and different demographic characteristics of different regions.